Premium
Short‐chain L ‐3‐hydroxyacyl‐CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy
Author(s) -
Tein I.,
De Vivo D. C.,
Hale D. E.,
Clarke J. T. R.,
Zinman H.,
Laxer R.,
Shore A.,
Dimauro S.
Publication year - 1991
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410300315
Subject(s) - myoglobinuria , endocrinology , medicine , dehydrogenase , acyl coa dehydrogenase , encephalopathy , chemistry , biochemistry , enzyme , rhabdomyolysis
We report on a 16‐year‐old girl with short‐chain L ‐3‐hydroxyacyl‐coenzyme A (CoA) dehydrogenase deficiency resulting in juvenile‐onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic/dilatative cardiomyopathy. Urinary organic acids showed traces of 3‐hydroxy‐dodecanedioic acids and small amounts of suberic, sebacic, and adipic acids. There was a marked decrease in L ‐3‐hydroxyacyl‐CoA dehydrogenase activity in muscle with acetoacetyl‐CoA as substrate (2.48 μmol/min/gm; normal = 6.90 ± 1.80 μmol/min/gm of tissue; n = 11), contrasting with normal L ‐3‐hydroxyacyl‐CoA dehydrogenase activity with 3‐ketooctanoyl‐CoA and 3‐ketopalmitoyl‐CoA as substrates. Short‐chain L ‐3‐hydroxyacyl‐CoA dehydrogenase activity was normal in fibroblasts, suggesting a tissue‐specific defect.